lissencephaly 8
MONDO:0014992Mondo
Findings
No curated finding names lissencephaly 8 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any lissencephaly (disease) in which the cause of the disease is a mutation in the TMTC3 gene.
Definition from the Mondo Disease Ontology (MONDO:0014992), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
29 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Appendicular spasticityHPOHP:0034353
- 9 of 9 reported patients
- Axial hypotoniaHPOHP:0008936
- 9 of 9 reported patients
- Delayed early-childhood social milestone developmentHPOHP:0012434
- 9 of 9 reported patients
- Delayed fine motor developmentHPOHP:0010862
- 9 of 9 reported patients
- Delayed gross motor developmentHPOHP:0002194
- 9 of 9 reported patients
- Delayed speech and language developmentHPOHP:0000750
- 9 of 9 reported patients
- Global developmental delay
Show the remaining 17
- Hypoplasia of the corpus callosumHPOHP:0002079
- 5 of 9 reported patients
- AgyriaHPOHP:0031882
- 4 of 9 reported patients
- Autistic behaviorHPOHP:0000729
- 2 of 5 reported patients
- Cerebellar hypoplasiaHPOHP:0001321
- 3 of 9 reported patients
- Talipes equinovarusHPOHP:0001762
- 2 of 6 reported patients
- Elevated circulating creatine kinase activityHPOHP:0003236
- 2 of 7 reported patients
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- TMTC3HGNC:26899
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Strong · G2P · Autosomal recessive · 2017
Where it sits
- A kind of
Other names
5 names
Resolves to: lissencephaly 8
- Also called
- LIS8lissencephaly (disease) caused by mutation in TMTC3lissencephaly 8; LIS8lissencephaly type 8TMTC3 lissencephaly (disease)